ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of acrosome reaction (GO:0060046)	5.75659233
2	positive regulation of uterine smooth muscle contraction (GO:0070474)	5.08917129
3	male meiosis I (GO:0007141)	5.01229803
4	* negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	41.5870783
5	multicellular organism reproduction (GO:0032504)	4.94194137
6	regulation of cytokine production involved in inflammatory response (GO:1900015)	4.60413164
7	regulation of female gonad development (GO:2000194)	4.45704000
8	meiosis I (GO:0007127)	4.37092719
9	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	4.00411016
10	* regulation of retinoic acid receptor signaling pathway (GO:0048385)	34.6037338
11	regulation of uterine smooth muscle contraction (GO:0070472)	3.98749761
12	regulation of female receptivity (GO:0045924)	3.98078735
13	drinking behavior (GO:0042756)	3.93970622
14	regulation of DNA methylation (GO:0044030)	3.87955106
15	aggressive behavior (GO:0002118)	3.81562680
16	transcription from mitochondrial promoter (GO:0006390)	3.74020824
17	positive regulation of prostaglandin secretion (GO:0032308)	3.67948127
18	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	3.64748441
19	protein kinase C signaling (GO:0070528)	3.62399083
20	hyperosmotic salinity response (GO:0042538)	3.60594185
21	regulation of penile erection (GO:0060405)	3.58071142
22	female mating behavior (GO:0060180)	3.56975196
23	positive regulation of humoral immune response (GO:0002922)	3.51683613
24	chaperone-mediated protein transport (GO:0072321)	3.48845842
25	rRNA modification (GO:0000154)	3.39608404
26	positive regulation of digestive system process (GO:0060456)	3.37305068
27	reproduction (GO:0000003)	3.33143873
28	positive regulation of catecholamine secretion (GO:0033605)	3.32666253
29	maturation of SSU-rRNA (GO:0030490)	3.31902800
30	negative regulation of digestive system process (GO:0060457)	3.19284843
31	negative regulation of reproductive process (GO:2000242)	3.16400701
32	sleep (GO:0030431)	3.11327600
33	mitotic chromosome condensation (GO:0007076)	3.11185571
34	ribosome assembly (GO:0042255)	3.09716535
35	rRNA methylation (GO:0031167)	3.09648594
36	response to acidic pH (GO:0010447)	3.09239968
37	regulation of prostaglandin secretion (GO:0032306)	3.08900449
38	oocyte development (GO:0048599)	3.07141225
39	binding of sperm to zona pellucida (GO:0007339)	2.98594144
40	autophagic vacuole assembly (GO:0000045)	2.91124835
41	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.84882428
42	cellular response to pH (GO:0071467)	2.79851066
43	male meiosis (GO:0007140)	2.78164790
44	glycine transport (GO:0015816)	2.78161486
45	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.67578509
46	termination of RNA polymerase III transcription (GO:0006386)	2.67578509
47	regulation of norepinephrine secretion (GO:0014061)	2.64487638
48	mitotic metaphase plate congression (GO:0007080)	2.61548923
49	positive regulation of reproductive process (GO:2000243)	2.57926620
50	ribosomal small subunit biogenesis (GO:0042274)	2.51223751
51	translational termination (GO:0006415)	2.49517449
52	viral transcription (GO:0019083)	2.48708308
53	maternal behavior (GO:0042711)	2.48555881
54	ventricular cardiac muscle cell development (GO:0055015)	2.47208443
55	regulation of mitotic spindle organization (GO:0060236)	2.41065819
56	chaperone mediated protein folding requiring cofactor (GO:0051085)	2.40836692
57	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	2.38508074
58	sperm-egg recognition (GO:0035036)	2.37066996
59	regulation of spindle organization (GO:0090224)	2.35652641
60	N-terminal protein amino acid acetylation (GO:0006474)	2.30323362
61	telomere maintenance via telomere lengthening (GO:0010833)	2.29013036
62	single fertilization (GO:0007338)	2.24641626
63	positive regulation of icosanoid secretion (GO:0032305)	2.23602705
64	rRNA processing (GO:0006364)	2.22371561
65	mitochondrial RNA metabolic process (GO:0000959)	2.21562602
66	parental behavior (GO:0060746)	2.20931976
67	regulation of G0 to G1 transition (GO:0070316)	2.19392009
68	protein K6-linked ubiquitination (GO:0085020)	2.16955080
69	grooming behavior (GO:0007625)	2.15364096
70	polyamine biosynthetic process (GO:0006596)	2.15198484
71	ribosome biogenesis (GO:0042254)	2.15023102
72	translational initiation (GO:0006413)	2.14035264
73	chromosome condensation (GO:0030261)	2.12958352
74	rRNA metabolic process (GO:0016072)	2.11854165
75	positive regulation of renal sodium excretion (GO:0035815)	2.11424711
76	skeletal muscle tissue regeneration (GO:0043403)	2.10573404
77	ribonucleoprotein complex biogenesis (GO:0022613)	2.09810209
78	translational elongation (GO:0006414)	2.09193114
79	very-low-density lipoprotein particle assembly (GO:0034379)	2.09143622
80	meiotic cell cycle (GO:0051321)	2.07749465
81	meiotic nuclear division (GO:0007126)	2.06361930
82	regulation of RNA export from nucleus (GO:0046831)	2.04414508
83	positive regulation of fatty acid transport (GO:2000193)	2.03022328
84	DNA replication initiation (GO:0006270)	2.01879194
85	negative regulation of RNA splicing (GO:0033119)	2.01817279
86	positive regulation of chromosome segregation (GO:0051984)	2.01359097
87	positive regulation of protein homooligomerization (GO:0032464)	2.01039979
88	regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	2.00848944
89	metaphase plate congression (GO:0051310)	2.00813390
90	cellular protein complex disassembly (GO:0043624)	2.00398791
91	pseudouridine synthesis (GO:0001522)	1.99274260
92	intestinal epithelial cell development (GO:0060576)	1.96778707
93	response to food (GO:0032094)	1.96508640
94	regulation of G2/M transition of mitotic cell cycle (GO:0010389)	1.96496017
95	detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	1.95678350
96	regulation of urine volume (GO:0035809)	1.95656711
97	snRNA transcription (GO:0009301)	1.94825620
98	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	1.94322633
99	transcription elongation from RNA polymerase II promoter (GO:0006368)	1.94108559
100	regulation of calcium ion-dependent exocytosis (GO:0017158)	1.93080741

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	NOTCH1_21737748_ChIP-Seq_TLL_Human	4.98827008
2	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	4.49880260
3	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	4.49880260
4	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	4.49880260
5	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.06746621
6	EZH2_22144423_ChIP-Seq_EOC_Human	3.91838746
7	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.77578271
8	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.68923726
9	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.62625327
10	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.59893401
11	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.30255168
12	ZNF274_21170338_ChIP-Seq_K562_Hela	3.28734438
13	ETS1_20019798_ChIP-Seq_JURKAT_Human	3.11049887
14	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.92060951
15	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.79227929
16	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.76016376
17	* ETV1_20927104_ChIP-Seq_GIST48_Human	2.67284180
18	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.59804077
19	* RBPJ_21746931_ChIP-Seq_IB4_Human	2.54726881
20	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.51356248
21	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.43648290
22	PHF8_20622853_ChIP-Seq_HELA_Human	2.40691805
23	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.34234598
24	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	2.30516375
25	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.27071302
26	* NFYB_21822215_ChIP-Seq_K562_Human	2.23266655
27	* TBL1_22424771_ChIP-Seq_293T_Human	2.16243117
28	MYC_19079543_ChIP-ChIP_MESCs_Mouse	2.15637743
29	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	2.15263249
30	GATA6_21074721_ChIP-Seq_CACO-2_Human	2.14328179
31	TP63_19390658_ChIP-ChIP_HaCaT_Human	2.03670713
32	E2F7_22180533_ChIP-Seq_HELA_Human	2.01502127
33	AR_21909140_ChIP-Seq_LNCAP_Human	1.91241152
34	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.88333209
35	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.84990456
36	MYC_18940864_ChIP-ChIP_HL60_Human	1.80106507
37	VDR_23849224_ChIP-Seq_CD4+_Human	1.75330880
38	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.74994979
39	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.73485255
40	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.68559672
41	TTF2_22483619_ChIP-Seq_HELA_Human	1.65499329
42	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.61657869
43	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.61068122
44	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.57152460
45	NFYA_21822215_ChIP-Seq_K562_Human	1.56833220
46	GABP_19822575_ChIP-Seq_HepG2_Human	1.52202178
47	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.51556817
48	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.50889887
49	XRN2_22483619_ChIP-Seq_HELA_Human	1.42688200
50	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.41184385
51	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.40252605
52	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.35493234
53	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.30996975
54	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.29908954
55	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.29276804
56	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.29268689
57	FOXP3_21729870_ChIP-Seq_TREG_Human	1.29095056
58	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.26821212
59	NANOG_20526341_ChIP-Seq_ESCs_Human	1.24470430
60	STAT1_20625510_ChIP-Seq_HELA_Human	1.20202111
61	KAP1_22055183_ChIP-Seq_ESCs_Mouse	1.20011376
62	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.19085984
63	RAC3_21632823_ChIP-Seq_H3396_Human	1.17453437
64	CTCF_20526341_ChIP-Seq_ESCs_Human	1.13542646
65	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.10927711
66	E2F1_20622854_ChIP-Seq_HELA_Human	1.08302415
67	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.06312955
68	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.06112563
69	TP53_22573176_ChIP-Seq_HFKS_Human	1.02454617
70	SOX2_21211035_ChIP-Seq_LN229_Human	1.02410863
71	CBX2_22325352_ChIP-Seq_293T-Rex_Human	1.00355485
72	ZNF263_19887448_ChIP-Seq_K562_Human	0.99487559
73	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.97948594
74	ELK1_19687146_ChIP-ChIP_HELA_Human	0.95308051
75	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.95084884
76	CTCF_21964334_Chip-Seq_Bcells_Human	0.92532662
77	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.90409641
78	IRF1_19129219_ChIP-ChIP_H3396_Human	0.90200653
79	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.88832890
80	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	0.88053847
81	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.86649454
82	MYCN_18555785_ChIP-Seq_MESCs_Mouse	0.86478036
83	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.86368911
84	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.84452406
85	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	0.83061769
86	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.82650254
87	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.82518949
88	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.82488201
89	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	0.82218993
90	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.81705957
91	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	0.80156978
92	P53_21459846_ChIP-Seq_SAOS-2_Human	0.79329853
93	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.79013546
94	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.78942991
95	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.78928794
96	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.78295504
97	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.77329737
98	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	0.76049386
99	NCOR_22424771_ChIP-Seq_293T_Human	0.75860222
100	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.73280209

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003718_maternal_effect	5.28832997
2	MP0001986_abnormal_taste_sensitivity	4.92876688
3	MP0005423_abnormal_somatic_nervous	4.46601754
4	MP0006292_abnormal_olfactory_placode	4.21486459
5	MP0009379_abnormal_foot_pigmentation	3.95169670
6	MP0003693_abnormal_embryo_hatching	3.26109470
7	MP0005499_abnormal_olfactory_system	2.79026556
8	MP0005394_taste/olfaction_phenotype	2.79026556
9	MP0002127_abnormal_cardiovascular_syste	2.72253461
10	MP0009840_abnormal_foam_cell	2.67882969
11	MP0004957_abnormal_blastocyst_morpholog	2.57535612
12	MP0003646_muscle_fatigue	2.54002119
13	MP0005410_abnormal_fertilization	2.52392235
14	MP0003111_abnormal_nucleus_morphology	2.45584019
15	MP0003077_abnormal_cell_cycle	2.37409893
16	MP0001929_abnormal_gametogenesis	2.33657892
17	MP0010307_abnormal_tumor_latency	2.30027302
18	MP0002210_abnormal_sex_determination	2.29426937
19	MP0008260_abnormal_autophagy	2.28100630
20	MP0009333_abnormal_splenocyte_physiolog	2.23066994
21	MP0005395_other_phenotype	2.17407262
22	MP0002160_abnormal_reproductive_system	2.15073763
23	MP0006276_abnormal_autonomic_nervous	2.08303041
24	MP0002277_abnormal_respiratory_mucosa	2.01853071
25	MP0008789_abnormal_olfactory_epithelium	1.92003392
26	MP0001881_abnormal_mammary_gland	1.89558376
27	MP0008877_abnormal_DNA_methylation	1.80113967
28	MP0005389_reproductive_system_phenotype	1.78085009
29	MP0005647_abnormal_sex_gland	1.77587965
30	MP0003699_abnormal_female_reproductive	1.74234707
31	MP0010094_abnormal_chromosome_stability	1.71347908
32	MP0008058_abnormal_DNA_repair	1.70992590
33	MP0010030_abnormal_orbit_morphology	1.70328383
34	MP0003283_abnormal_digestive_organ	1.64730276
35	MP0000653_abnormal_sex_gland	1.55873773
36	MP0005360_urolithiasis	1.48109340
37	MP0005451_abnormal_body_composition	1.45420671
38	MP0001672_abnormal_embryogenesis/_devel	1.45011769
39	MP0005380_embryogenesis_phenotype	1.45011769
40	MP0002161_abnormal_fertility/fecundity	1.40907834
41	MP0002138_abnormal_hepatobiliary_system	1.39816333
42	MP0003136_yellow_coat_color	1.39308497
43	MP0000350_abnormal_cell_proliferation	1.30991099
44	MP0008932_abnormal_embryonic_tissue	1.30694376
45	MP0008057_abnormal_DNA_replication	1.30206340
46	MP0003698_abnormal_male_reproductive	1.29392942
47	MP0005646_abnormal_pituitary_gland	1.28977069
48	MP0001145_abnormal_male_reproductive	1.25853957
49	MP0003938_abnormal_ear_development	1.25641967
50	MP0001730_embryonic_growth_arrest	1.21148392
51	MP0000372_irregular_coat_pigmentation	1.20334055
52	MP0004142_abnormal_muscle_tone	1.17832510
53	MP0001119_abnormal_female_reproductive	1.17623567
54	MP0001502_abnormal_circadian_rhythm	1.14335117
55	MP0006036_abnormal_mitochondrial_physio	1.14330810
56	MP0003984_embryonic_growth_retardation	1.13895257
57	MP0002088_abnormal_embryonic_growth/wei	1.08258628
58	MP0003950_abnormal_plasma_membrane	1.07445136
59	MP0001529_abnormal_vocalization	1.06935595
60	MP0000462_abnormal_digestive_system	1.06931813
61	MP0003186_abnormal_redox_activity	1.03246259
62	MP0001697_abnormal_embryo_size	1.02101989
63	MP0003195_calcinosis	0.97300162
64	MP0001666_abnormal_nutrient_absorption	0.93588453
65	MP0000049_abnormal_middle_ear	0.93560659
66	MP0001293_anophthalmia	0.93272505
67	MP0002254_reproductive_system_inflammat	0.91480975
68	MP0001919_abnormal_reproductive_system	0.91396588
69	MP0010368_abnormal_lymphatic_system	0.91096334
70	MP0002233_abnormal_nose_morphology	0.89658060
71	MP0002796_impaired_skin_barrier	0.89501590
72	MP0000627_abnormal_mammary_gland	0.87941008
73	MP0001545_abnormal_hematopoietic_system	0.85776922
74	MP0005397_hematopoietic_system_phenotyp	0.85776922
75	MP0005085_abnormal_gallbladder_physiolo	0.84689593
76	MP0004215_abnormal_myocardial_fiber	0.82281212
77	MP0000358_abnormal_cell_content/	0.81476456
78	MP0008995_early_reproductive_senescence	0.80272360
79	MP0003936_abnormal_reproductive_system	0.77871663
80	MP0002080_prenatal_lethality	0.73662613
81	MP0003119_abnormal_digestive_system	0.72083223
82	MP0004233_abnormal_muscle_weight	0.69675039
83	MP0002163_abnormal_gland_morphology	0.68841515
84	MP0002084_abnormal_developmental_patter	0.68834849
85	MP0002085_abnormal_embryonic_tissue	0.67665654
86	MP0004019_abnormal_vitamin_homeostasis	0.66470905
87	MP0003567_abnormal_fetal_cardiomyocyte	0.63189121
88	MP0000762_abnormal_tongue_morphology	0.62964020
89	MP0002102_abnormal_ear_morphology	0.62859771
90	MP0001440_abnormal_grooming_behavior	0.62128881
91	MP0002873_normal_phenotype	0.61364380
92	MP0002169_no_abnormal_phenotype	0.61124455
93	MP0000631_abnormal_neuroendocrine_gland	0.60867841
94	MP0006035_abnormal_mitochondrial_morpho	0.60784029
95	MP0002269_muscular_atrophy	0.59828802
96	MP0005501_abnormal_skin_physiology	0.58050963
97	MP0001968_abnormal_touch/_nociception	0.55816957
98	MP0003121_genomic_imprinting	0.51621760
99	MP0002086_abnormal_extraembryonic_tissu	0.49382760
100	MP0002736_abnormal_nociception_after	0.48849535

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Male infertility (HP:0003251)	7.79914040
2	Malnutrition (HP:0004395)	6.01102890
3	Premature ovarian failure (HP:0008209)	4.79705335
4	Aplasia/hypoplasia of the uterus (HP:0008684)	4.24119365
5	Patent foramen ovale (HP:0001655)	4.15319581
6	Carpal bone hypoplasia (HP:0001498)	4.11368926
7	Aplasia/Hypoplasia involving the musculature (HP:0001460)	3.73782539
8	Ileus (HP:0002595)	3.73455049
9	Sensory axonal neuropathy (HP:0003390)	3.69908477
10	Infertility (HP:0000789)	3.54006967
11	Rhinitis (HP:0012384)	3.41141353
12	Hypoplasia of the uterus (HP:0000013)	3.37604102
13	Progressive muscle weakness (HP:0003323)	3.37134865
14	Periauricular skin pits (HP:0100277)	3.33099401
15	Preauricular pit (HP:0004467)	3.33099401
16	Hypoplasia of the fovea (HP:0007750)	3.32086169
17	Aplasia/Hypoplasia of the fovea (HP:0008060)	3.32086169
18	Hypercortisolism (HP:0001578)	3.29572061
19	Hypophosphatemic rickets (HP:0004912)	3.23614865
20	Abnormal pancreas size (HP:0012094)	3.22686266
21	Birth length less than 3rd percentile (HP:0003561)	3.20283976
22	Hypergonadotropic hypogonadism (HP:0000815)	3.18686888
23	Reticulocytopenia (HP:0001896)	3.08249933
24	Microretrognathia (HP:0000308)	3.05547136
25	Congenital malformation of the right heart (HP:0011723)	3.02887016
26	Double outlet right ventricle (HP:0001719)	3.02887016
27	Dysphonia (HP:0001618)	2.92353278
28	Osteomalacia (HP:0002749)	2.90877152
29	Short tibia (HP:0005736)	2.88719780
30	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.87881171
31	Ureteral duplication (HP:0000073)	2.87577602
32	Steatorrhea (HP:0002570)	2.84962046
33	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.83942384
34	Abnormality of the septum pellucidum (HP:0007375)	2.83295163
35	Microvesicular hepatic steatosis (HP:0001414)	2.80828461
36	Abnormal umbilical cord blood vessels (HP:0011403)	2.76689310
37	Single umbilical artery (HP:0001195)	2.76689310
38	Abnormality of the fetal cardiovascular system (HP:0010948)	2.76689310
39	Constricted visual fields (HP:0001133)	2.76411894
40	Abnormality of the aortic arch (HP:0012303)	2.70459173
41	Abnormality of cells of the erythroid lineage (HP:0012130)	2.65711986
42	Muscle stiffness (HP:0003552)	2.62458001
43	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.61329304
44	Hypoglycemic seizures (HP:0002173)	2.60402364
45	Anterior segment dysgenesis (HP:0007700)	2.60384957
46	Multiple enchondromatosis (HP:0005701)	2.59962717
47	Facial cleft (HP:0002006)	2.55295387
48	Myopathic facies (HP:0002058)	2.52238694
49	Abnormality of the fovea (HP:0000493)	2.52176333
50	Limb dystonia (HP:0002451)	2.52169562
51	Abnormal number of erythroid precursors (HP:0012131)	2.50425851
52	Anhidrosis (HP:0000970)	2.45738034
53	Cleft eyelid (HP:0000625)	2.45043300
54	Aplasia of the musculature (HP:0100854)	2.44881378
55	Fat malabsorption (HP:0002630)	2.43488133
56	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	2.42296570
57	Fused cervical vertebrae (HP:0002949)	2.41479729
58	Myokymia (HP:0002411)	2.39154753
59	Impaired social interactions (HP:0000735)	2.38100592
60	Abnormal social behavior (HP:0012433)	2.38100592
61	Stenosis of the external auditory canal (HP:0000402)	2.37139579
62	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.33897427
63	Absent thumb (HP:0009777)	2.33802799
64	Aplasia/hypoplasia of the humerus (HP:0006507)	2.33090842
65	Glossoptosis (HP:0000162)	2.27759839
66	Impaired proprioception (HP:0010831)	2.27683645
67	Absent radius (HP:0003974)	2.27570373
68	Fibular aplasia (HP:0002990)	2.26149161
69	Congenital ichthyosiform erythroderma (HP:0007431)	2.23840251
70	Aplasia involving forearm bones (HP:0009822)	2.15071905
71	Absent forearm bone (HP:0003953)	2.15071905
72	Skin pits (HP:0100276)	2.14457017
73	Metaphyseal dysplasia (HP:0100255)	2.11450248
74	Glycosuria (HP:0003076)	2.05642290
75	Abnormality of urine glucose concentration (HP:0011016)	2.05642290
76	Horseshoe kidney (HP:0000085)	2.04609615
77	Bony spicule pigmentary retinopathy (HP:0007737)	2.03424719
78	Breast hypoplasia (HP:0003187)	2.03236679
79	Concave nail (HP:0001598)	2.01287409
80	Genu varum (HP:0002970)	2.00463879
81	Delayed CNS myelination (HP:0002188)	2.00450951
82	Progressive hearing impairment (HP:0001730)	1.99582794
83	Absent septum pellucidum (HP:0001331)	1.99303517
84	Abnormality of monocarboxylic acid metabolism (HP:0010996)	1.97875750
85	Attenuation of retinal blood vessels (HP:0007843)	1.95014589
86	Hyperglycemia (HP:0003074)	1.94085838
87	Hypoplasia of the radius (HP:0002984)	1.93549848
88	Progressive inability to walk (HP:0002505)	1.92856888
89	Selective tooth agenesis (HP:0001592)	1.92689322
90	Aplasia/Hypoplasia of the macula (HP:0008059)	1.92392746
91	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.92376822
92	Cortical visual impairment (HP:0100704)	1.92091843
93	Pendular nystagmus (HP:0012043)	1.91792680
94	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	1.91610035
95	Abnormality of magnesium homeostasis (HP:0004921)	1.91278369
96	Ragged-red muscle fibers (HP:0003200)	1.88077298
97	Rickets (HP:0002748)	1.87780636
98	Choanal stenosis (HP:0000452)	1.87549339
99	Abnormality of the ileum (HP:0001549)	1.87203532
100	Meckel diverticulum (HP:0002245)	1.87193511

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BUB1	6.37473715
2	TESK2	5.51865378
3	SRPK1	4.15243311
4	LATS2	3.84335924
5	PBK	3.82214432
6	TRIM28	3.27360658
7	CDK19	3.23142102
8	STK16	2.91685529
9	BRSK2	2.73184271
10	NEK6	2.63353437
11	BRSK1	2.47012642
12	PLK1	1.96366389
13	PDK2	1.96341428
14	EIF2AK3	1.90848146
15	MARK3	1.73865866
16	NEK2	1.68627076
17	AURKA	1.66844778
18	ZAK	1.59558368
19	AURKB	1.55289556
20	PLK3	1.37177628
21	STK3	1.33630205
22	NME1	1.30879183
23	PKN1	1.27741634
24	PRKCI	1.20629543
25	PLK4	1.18705592
26	TLK1	1.14504671
27	TAOK3	1.09110703
28	CDK7	1.07912414
29	MAP3K5	1.07547113
30	STK4	1.07270454
31	CHEK1	1.02412355
32	GSK3A	1.02224324
33	DYRK3	0.98666333
34	TTK	0.98414943
35	LRRK2	0.98164257
36	CHEK2	0.95830919
37	PAK1	0.92094978
38	ACVR1B	0.90707463
39	STK24	0.89779882
40	NTRK3	0.89669082
41	MELK	0.85337603
42	WNK3	0.78422170
43	CSNK2A1	0.77461122
44	CSNK1E	0.76618453
45	PIM2	0.76193897
46	CDC7	0.75078802
47	CSNK2A2	0.74505073
48	INSRR	0.73807083
49	MAP3K9	0.73284011
50	STK10	0.72593787
51	WNK1	0.68502788
52	KDR	0.67100256
53	BMX	0.66988248
54	PIM1	0.66879842
55	PAK2	0.66380687
56	CDK9	0.65940274
57	AKT2	0.63313640
58	ATR	0.59683754
59	RAF1	0.57686485
60	WEE1	0.57481424
61	CDK2	0.56857076
62	EIF2AK1	0.55231859
63	MAPK11	0.49825345
64	ABL2	0.47067195
65	CDK1	0.46860818
66	OXSR1	0.44070127
67	STK39	0.41596445
68	FRK	0.41213507
69	PAK6	0.40485412
70	NME2	0.38474361
71	STK38L	0.38340045
72	EIF2AK2	0.36864089
73	MAP3K8	0.34532580
74	TESK1	0.34213455
75	ILK	0.33406651
76	PRKCG	0.31487126
77	NUAK1	0.31264321
78	LATS1	0.31115575
79	PIK3CG	0.27637988
80	BMPR1B	0.27447122
81	MTOR	0.26817825
82	PRKD1	0.26689683
83	MAPK1	0.26150195
84	ATM	0.26099135
85	PRKG1	0.25937398
86	GSK3B	0.25401430
87	WNK4	0.23016267
88	CSNK1A1	0.22898708
89	PINK1	0.22759014
90	CDK8	0.22246780
91	RPS6KA1	0.22030133
92	DMPK	0.21520839
93	CLK1	0.21476800
94	PRKD2	0.18449348
95	PRKCE	0.17498295
96	BCKDK	0.17429342
97	TIE1	0.17204118
98	TAOK2	0.16714815
99	VRK1	0.16017376
100	MAPK14	0.15477885

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Basal transcription factors_Homo sapiens_hsa03022	5.24195965
2	Ribosome_Homo sapiens_hsa03010	4.86655159
3	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	4.79823638
4	Folate biosynthesis_Homo sapiens_hsa00790	4.06038317
5	RNA polymerase_Homo sapiens_hsa03020	4.02292417
6	Regulation of autophagy_Homo sapiens_hsa04140	3.67241447
7	mRNA surveillance pathway_Homo sapiens_hsa03015	3.32765117
8	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.98921345
9	RNA transport_Homo sapiens_hsa03013	2.79172385
10	Cell cycle_Homo sapiens_hsa04110	2.73644703
11	Spliceosome_Homo sapiens_hsa03040	2.46758142
12	Oocyte meiosis_Homo sapiens_hsa04114	2.16111801
13	Taste transduction_Homo sapiens_hsa04742	2.11787674
14	p53 signaling pathway_Homo sapiens_hsa04115	1.96492168
15	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.91990681
16	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.84970273
17	Pyrimidine metabolism_Homo sapiens_hsa00240	1.73742110
18	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.52883857
19	Steroid biosynthesis_Homo sapiens_hsa00100	1.34782945
20	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.32816373
21	Huntingtons disease_Homo sapiens_hsa05016	1.32061631
22	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.30208190
23	RNA degradation_Homo sapiens_hsa03018	1.29975995
24	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.29544582
25	Cardiac muscle contraction_Homo sapiens_hsa04260	1.26428680
26	DNA replication_Homo sapiens_hsa03030	1.25273157
27	Base excision repair_Homo sapiens_hsa03410	1.24806175
28	Proteasome_Homo sapiens_hsa03050	1.12269659
29	Parkinsons disease_Homo sapiens_hsa05012	1.11852860
30	Mismatch repair_Homo sapiens_hsa03430	1.11808119
31	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.10739888
32	Sulfur metabolism_Homo sapiens_hsa00920	1.10265638
33	Fanconi anemia pathway_Homo sapiens_hsa03460	1.04943101
34	Homologous recombination_Homo sapiens_hsa03440	1.04420144
35	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.02593535
36	Purine metabolism_Homo sapiens_hsa00230	0.90584397
37	Viral carcinogenesis_Homo sapiens_hsa05203	0.87555915
38	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.87402483
39	Fatty acid elongation_Homo sapiens_hsa00062	0.87086394
40	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.83127427
41	Olfactory transduction_Homo sapiens_hsa04740	0.80560933
42	Nucleotide excision repair_Homo sapiens_hsa03420	0.76927817
43	Oxidative phosphorylation_Homo sapiens_hsa00190	0.75167371
44	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.68470131
45	ABC transporters_Homo sapiens_hsa02010	0.66183469
46	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.63005178
47	Herpes simplex infection_Homo sapiens_hsa05168	0.58444269
48	Sulfur relay system_Homo sapiens_hsa04122	0.49881794
49	MicroRNAs in cancer_Homo sapiens_hsa05206	0.48328003
50	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.47152898
51	Collecting duct acid secretion_Homo sapiens_hsa04966	0.47070303
52	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.46482525
53	Wnt signaling pathway_Homo sapiens_hsa04310	0.45711789
54	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.44688723
55	Protein digestion and absorption_Homo sapiens_hsa04974	0.43978335
56	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.43434020
57	Serotonergic synapse_Homo sapiens_hsa04726	0.42400311
58	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.38848128
59	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.37455459
60	Glutathione metabolism_Homo sapiens_hsa00480	0.37271820
61	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.36798066
62	Protein export_Homo sapiens_hsa03060	0.36159993
63	Mineral absorption_Homo sapiens_hsa04978	0.34572482
64	Caffeine metabolism_Homo sapiens_hsa00232	0.33993325
65	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.32831691
66	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.32824139
67	Arginine and proline metabolism_Homo sapiens_hsa00330	0.31604398
68	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.30922538
69	Hepatitis B_Homo sapiens_hsa05161	0.30207020
70	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.27147764
71	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.26284227
72	Selenocompound metabolism_Homo sapiens_hsa00450	0.26012402
73	Metabolic pathways_Homo sapiens_hsa01100	0.25895203
74	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.21929652
75	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.21823616
76	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.20459752
77	Small cell lung cancer_Homo sapiens_hsa05222	0.18433842
78	Nicotine addiction_Homo sapiens_hsa05033	0.18318607
79	Insulin secretion_Homo sapiens_hsa04911	0.17662281
80	Bile secretion_Homo sapiens_hsa04976	0.17654183
81	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.16922210
82	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.16756737
83	Hippo signaling pathway_Homo sapiens_hsa04390	0.16106327
84	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.14039022
85	AMPK signaling pathway_Homo sapiens_hsa04152	0.13950905
86	Vibrio cholerae infection_Homo sapiens_hsa05110	0.13498530
87	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.12983159
88	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.11715006
89	Acute myeloid leukemia_Homo sapiens_hsa05221	0.10512821
90	Sphingolipid metabolism_Homo sapiens_hsa00600	0.09709197
91	Tight junction_Homo sapiens_hsa04530	0.08277576
92	Morphine addiction_Homo sapiens_hsa05032	0.07917649
93	FoxO signaling pathway_Homo sapiens_hsa04068	0.07102351
94	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.06657049
95	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.06262471
96	GABAergic synapse_Homo sapiens_hsa04727	0.04812310
97	Nitrogen metabolism_Homo sapiens_hsa00910	0.04108548
98	Alzheimers disease_Homo sapiens_hsa05010	0.02964190
99	Alcoholism_Homo sapiens_hsa05034	0.02552015
100	Legionellosis_Homo sapiens_hsa05134	0.02430909

PRAMEF22

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

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